Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/29412
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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorSILVA, Pamela Rodrigues de Souza
dc.contributor.authorJANNES, Cinthia Elim
dc.contributor.authorOLIVEIRA, Theo G. M.
dc.contributor.authorGOMEZ, Luz Marina Gomez
dc.contributor.authorKRIEGER, Jose E.
dc.contributor.authorSANTOS, Raul D.
dc.contributor.authorPEREIRA, Alexandre Costa
dc.date.accessioned2018-11-21T17:00:35Z
dc.date.available2018-11-21T17:00:35Z
dc.date.issued2018
dc.identifier.citationARQUIVOS BRASILEIROS DE CARDIOLOGIA, v.111, n.4, p.578-583, 2018
dc.identifier.issn0066-782X
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/29412
dc.description.abstractBackground: Genetic cascade screening is the most cost-effective method for the identification of individuals with familial hypercholesterolemia (FH), but the best strategies for the enrollment of at-risk individuals in a FH screening program are not fully known. Objective: The aim of this study is to identify the best predictors of familial enrollment into genetic screening, using features derived from tested probands. Methods: One hundred and eighty-three index-cases (ICs) with a positive genetic result that had relatives screened from 01/2011 to 07/2015 were included. The response variable was the number of relatives for each enrolled IC. All variables in the study were based on ICs' derived clinical and socioeconomical features. The effect size of predictor variables were obtained through a general linear model using a negative binomial regression link function. Significance was considered with a p < 0.05. Results: Mean IC age when enrolling into the program was 50 years old; 78.1% of individuals reported knowledge of relatives with dyslipidemia. Mean baseline LDL-cholesterol level was 316 +/- 90 mg/dL. Referral origin through the cascade program website vs. tertiary care, IC LDL-cholesterol and familial history of high LDL-cholesterol levels were independent predictors associated with a higher number of enrolled relatives. Conclusions: Our data suggest that FH cascade screening programs can predict family enrollment based on IC features. This information may be useful for devising better and more effective screening approaches for at-risk individuals.
dc.description.abstractFundamento: O rastreamento genético em cascata é o método mais economicamente viável para a identificação de indivíduos com hipercolesterolemia familiar, mas as melhores estratégias para o recrutamento de indivíduos em risco em um programa de rastreamento deste tipo não são inteiramente conhecidas. Objetivo: Identificar os melhores preditores de recrutamento familiar em rastreamento genético, usando características derivadas de probandos testados. Métodos: Foram inscritos 183 casos índices com resultado genético positivo, que tiveram familiares rastreados de janeiro de 2011 a julho de 2015. A variável de resposta foi o número de familiares para cada caso índice inscrito. Todas as variáveis do estudo foram baseadas em características clínicas e socioeconômicas derivadas dos casos índices. O tamanho do efeito das variáveis preditoras foi obtido de modelo linear geral utilizando função de associação de regressão binomial negativa. A significância foi considerada com p < 0,05. Resultados: A média de idade dos casos índices ao ingressar no programa foi de 50 anos; 78,1% dos indivíduos relataram conhecimento de familiares com dislipidemia. O nível médio de LDL-colesterol inicial foi de 316 ± 90 mg/dL. Origem de referência por meio do site do programa em cascata vs. cuidados terciários, LDL-colesterol do caso índice e história familiar de níveis elevados de LDL-colesterol foram preditores independentes associados a um maior número de familiares inscritos. Conclusões: Programas de rastreamento genético em cascata da hipercolesterolemia familiar podem prever o recrutamento da família com base nas características do caso índice. Esta informação pode ser útil para criar abordagens de rastreamento melhores e mais eficazes para indivíduos em risco.
dc.description.sponsorshipHospital Samaritano and Ministerio da Saude (PROADI-SUS) [SIPAR 25000.180.672/2011-81]
dc.language.isoeng
dc.language.isopor
dc.publisherARQUIVOS BRASILEIROS CARDIOLOGIA
dc.relation.ispartofArquivos Brasileiros de Cardiologia
dc.rightsopenAccess
dc.subjectHypelipoproteinemia Type II/genetics
dc.subjectMass Screening
dc.subjectDyslipidemias/genetics
dc.subjectHypercholesterolemia
dc.subjectGenetic Testing
dc.subjectCholesterol
dc.subjectHiperlipoproteinemia Tipo II/genética
dc.subjectProgramas de Rastreamento
dc.subjectDislipidemias / genética
dc.subjectHipercolesterolemia
dc.subjectTestes Genéticos
dc.subjectColesterol
dc.subject.othercost-effectiveness
dc.subject.otherexperiences
dc.subject.otherdisease
dc.subject.otherfh
dc.titlePredictors of Family Enrollment in a Genetic Cascade Screening Program for Familial Hypercholesterolemia
dc.title.alternativePreditores de Recrutamento Familiar em um Programa de Rastreamento Genético em Cascata para Hipercolesterolemia Familiar
dc.typearticle
dc.rights.holderCopyright ARQUIVOS BRASILEIROS CARDIOLOGIA
dc.identifier.doi10.5935/abc.20180156
dc.identifier.pmid30156605
dc.subject.wosCardiac & Cardiovascular Systems
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
hcfmusp.description.beginpage578
hcfmusp.description.endpage583
hcfmusp.description.issue4
hcfmusp.description.volume111
hcfmusp.origemWOS
hcfmusp.origem.idWOS:000447917500008
hcfmusp.origem.id2-s2.0-85055423546
hcfmusp.origem.idSCIELO:S0066-782X2018001600578
hcfmusp.publisher.cityRIO DE JANEIRO
hcfmusp.publisher.countryBRAZIL
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dc.description.indexMEDLINE
hcfmusp.citation.scopus4
hcfmusp.scopus.lastupdate2022-06-16-
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Artigos e Materiais de Revistas Científicas - FM/MCP
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Instituto do Coração - HC/InCor

Artigos e Materiais de Revistas Científicas - LIM/13
LIM/13 - Laboratório de Genética e Cardiologia Molecular


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